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NM_003680.4(YARS1):c.177T>G (p.Ile59Met)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: May 26, 2021)
Last evaluated:
Jul 17, 2020
Accession:
VCV000843247.4
Variation ID:
843247
Description:
single nucleotide variant
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NM_003680.4(YARS1):c.177T>G (p.Ile59Met)

Allele ID
823892
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p35.1
Genomic location
1: 32810938 (GRCh38) GRCh38 UCSC
1: 33276539 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_273:g.12095T>G
LRG_273t1:c.177T>G LRG_273p1:p.Ile59Met
NC_000001.10:g.33276539A>C
... more HGVS
Protein change
I59M
Other names
-
Canonical SPDI
NC_000001.11:32810937:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1240096439
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Dec 19, 2019 RCV001045821.2
Uncertain significance 1 criteria provided, single submitter Jul 17, 2020 RCV001507949.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
YARS1 - - GRCh38
GRCh37
254 301

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Dec 19, 2019)
criteria provided, single submitter
Method: clinical testing
Charcot-Marie-Tooth disease, dominant intermediate C
Allele origin: germline
Invitae
Accession: SCV001209695.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces isoleucine with methionine at codon 59 of the YARS protein (p.Ile59Met). The isoleucine residue is highly conserved and there is a … (more)
Uncertain significance
(Jul 17, 2020)
criteria provided, single submitter
Method: clinical testing
Not provided
Allele origin: germline
Mayo Clinic Laboratories,Mayo Clinic
Accession: SCV001713807.1
Submitted: (May 26, 2021)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs1240096439...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Dec 04, 2021